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

5 papers

NM_000051.4

p.A2301fs

c.6901_6902fs

Surrounding Variants

1 paper

NM_000051.4

p.A2301T

c.6901G>A

2 papers

NM_000051.4

p.A2301P

c.6901G>C

1 paper

NM_000051.4

p.A2301fs

c.6901_6902fs

26 papers

NM_000051.4

p.K2303insFs

c.6908dupA

1 paper

NM_000051.4

p.A2301V

c.6902C>T

4 papers

NM_000051.4

p.K2303delFs

c.6908delA

1 paper

NM_000051.4

p.W2300*

c.6900G>A

3 papers

NM_000051.4

p.W2300C

c.6900G>C

3 papers

NM_000051.4

p.W2300C

c.6900G>T

1 paper

NM_000051.4

p.W2300*

c.6899G>A

3 papers

NM_000051.4

p.W2300S

c.6899G>C

1 paper

NM_000051.4

p.W2300L

c.6899G>T