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.R2263K

c.6788G>A

Surrounding Variants

4 papers

NM_000051.4

p.R2263S

c.6789A>C

1 paper

NM_000051.4

p.R2263G

c.6787A>G

4 papers

NM_000051.4

p.R2263S

c.6789A>T

1 paper

NM_000051.4

p.T2264insFs

c.6790_6791insTT

1 paper

NM_000051.4

p.A2262D

c.6785C>A

1 paper

NM_000051.4

p.A2262G

c.6785C>G

2 papers

NM_000051.4

p.T2264I

c.6791C>T

4 papers

NM_000051.4

p.A2262P

c.6784G>C

4 papers

NM_000051.4

p.F2265L

c.6793T>C

2 papers

NM_000051.4

p.F2265S

c.6794T>C

4 papers

NM_000051.4

p.F2265L

c.6795C>A

4 papers

NM_000051.4

p.F2265L

c.6795C>G