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.C1948Y

c.5843G>A

Surrounding Variants

1 paper

NM_000051.4

p.A1949S

c.5845G>T

1 paper

NM_000051.4

p.S1947Y

c.5840C>A

2 papers

NM_000051.4

p.S1947F

c.5840C>T

2 papers

NM_000051.4

p.A1949A

c.5847T>C

1 paper

NM_000051.4

p.S1947P

c.5839T>C

1 paper

NM_000051.4

p.S1947_C1948insA

c.5839_5843ins3

1 paper

NM_000051.4

p.A1950T

c.5848G>A

1 paper

NM_000051.4

p.Q1946H

c.5838G>C

1 paper

NM_000051.4

p.A1950P

c.5848G>C

1 paper

NM_000051.4

p.Q1946H

c.5838G>T

1 paper

NM_000051.4

p.H1951_F1952delFs

c.5851_5854del4

1 paper

NM_000051.4

p.Q1946L

c.5837A>T