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.V2152delFs

c.6454delG

Surrounding Variants

2 papers

NM_000051.4

p.R2151Splc

c.6453-1G>A

4 papers

NM_000051.4

p.R2151Splc

c.6453-1G>C

1 paper

NM_000051.4

p.R2151Splc

c.6453-1G>T

2 papers

NM_000051.4

p.V2152_K2153delFs

c.6454_6457del4

1 paper

NM_000051.4

p.V2152fs

c.6454_6455fs

5 papers

NM_000051.4

p.R2151Splc

c.6453-2A>G

1 paper

NM_000051.4

p.K2153fs

c.6457_6458fs

2 papers

NM_000051.4

p.V2155E

c.6464T>A

1 paper

NM_000051.4

p.V2155A

c.6464T>C

3 papers

NM_000051.4

p.V2155V

c.6465G>A

3 papers

NM_000051.4

p.E2156*

c.6466G>T

1 paper

NM_000051.4

p.E2156_E2157delFs

c.6468_6469delAG