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.C12insFs

c.34_35insA

Surrounding Variants

4 papers

NM_000051.4

p.C12R

c.34T>C

9 papers

NM_000051.4

p.C12delFs

c.35delG

9 papers

NM_000051.4

p.C12Y

c.35G>A

4 papers

NM_000051.4

p.C12S

c.35G>C

8 papers

NM_000051.4

p.C12F

c.35G>T

1 paper

NM_000051.4

p.C12*

c.36C>A

11 papers

NM_000051.4

p.C12_R13insFs

c.36_37insAA

1 paper

NM_000051.4

p.C12_R13insFs

c.36_37insTG

1 paper

NM_000051.4

p.C11S

c.32G>C

1 paper

NM_000051.4

p.C11insFs

c.32_33insA

1 paper

NM_000051.4

p.C11F

c.32G>T

1 paper

NM_000051.4

p.C11_H17delFs

c.33_49del17