Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.Q1906_R1907delFs

c.5718_5719delAA

Surrounding Variants

1 paper

NM_000051.4

p.Q1906fs

c.5716_5717fs

4 papers

NM_000051.4

p.Q1906*

c.5716C>T

2 papers

NM_000051.4

p.R1907_T1908delFs

c.5719_5722del4

1 paper

NM_000051.4

p.Q1906R

c.5717A>G

3 papers

NM_000051.4

p.S1905*

c.5714C>A

2 papers

NM_000051.4

p.S1905*

c.5714C>G

2 papers

NM_000051.4

p.R1907fs

c.5719_5720fs

1 paper

NM_000051.4

p.R1907*

c.5719A>T

2 papers

NM_000051.4

p.R1907fs

c.5719_5720fs

1 paper

NM_000051.4

p.R1907_T1908delFs

c.5720_5723del4

2 papers

NM_000051.4

p.S1905insFs

c.5713_5714insA

6 papers

NM_000051.4

p.S1905fs

c.5713_5714fs