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

2 papers

NM_000051.4

p.S421L

c.1262C>T

Surrounding Variants

8 papers

NM_000051.4

p.S421*

c.1262C>A

8 papers

NM_000051.4

p.S421*

c.1262C>G

1 paper

NM_000051.4

p.K422delFs

c.1265delA

1 paper

NM_000051.4

p.S421S

c.1263A>C

1 paper

NM_000051.4

p.S421P

c.1261T>C

1 paper

NM_000051.4

p.S421fs

c.1261_1262fs

1 paper

NM_000051.4

p.S421_K422insG

c.1261_1265ins3

1 paper

NM_000051.4

p.S421fs

c.1261_1262fs

1 paper

NM_000051.4

p.K422Q

c.1264A>C

1 paper

NM_000051.4

p.I420M

c.1260A>G

1 paper

NM_000051.4

p.K422E

c.1264A>G

1 paper

NM_000051.4

p.K422*

c.1264A>T