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.I1473fs

c.4417_4418fs

Surrounding Variants

2 papers

NM_000051.4

p.L1472F

c.4416G>C

2 papers

NM_000051.4

p.L1472F

c.4416G>T

1 paper

NM_000051.4

p.L1472S

c.4415T>C

2 papers

NM_000051.4

p.L1472W

c.4415T>G

1 paper

NM_000051.4

p.H1474N

c.4420C>A

7 papers

NM_000051.4

p.H1474D

c.4420C>G

15 papers

NM_000051.4

p.L1472V

c.4414T>G

1 paper

NM_000051.4

p.L1472delins

c.4414_4416delinsATTTATACT

2 papers

NM_000051.4

p.L1472fs

c.4414_4415fs

2 papers

NM_000051.4

p.H1474R

c.4421A>G

1 paper

NM_000051.4

p.T1471insFs

c.4412_4413insT

2 papers

NM_000051.4

p.T1471S

c.4412C>G