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.E2457*

c.7369G>T

Surrounding Variants

1 paper

NM_000051.4

p.E2457K

c.7369G>A

1 paper

NM_000051.4

p.E2457Q

c.7369G>C

4 papers

NM_000051.4

p.E2457fs

c.7369_7370fs

4 papers

NM_000051.4

p.E2457A

c.7370A>C

1 paper

NM_000051.4

p.K2456R

c.7367A>G

3 papers

NM_000051.4

p.E2457delFs

c.7370_7371delAG

2 papers

NM_000051.4

p.K2456fs

c.7366_7367fs

1 paper

NM_000051.4

p.K2456_E2457insC

c.7366_7370ins3

1 paper

NM_000051.4

p.K2456E

c.7366A>G

1 paper

NM_000051.4

p.D2458V

c.7373A>T

1 paper

NM_000051.4

p.L2455L

c.7365G>C

1 paper

NM_000051.4

p.K2456delFs

c.7366_7367delAA